Chromosome Breakage Disorders
Gene: PNKPEnsemblGeneIds (GRCh38): ENSG00000039650
EnsemblGeneIds (GRCh37): ENSG00000039650
OMIM: 605610, Gene2Phenotype
PNKP is in 15 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Enzyme involved in DNA repair.
Ataxia-oculomotor apraxia 4, MIM# 616267 typically has onset in first decade, whereas Microcephaly, seizures, and developmental delay, MIM# 613402 is congenital.
Sources: Expert ReviewCreated: 23 Apr 2021, 10:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ataxia-oculomotor apraxia 4, MIM# 616267; Microcephaly, seizures, and developmental delay, MIM# 613402
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Ataxia-oculomotor apraxia 4, MIM# 616267
- Microcephaly, seizures, and developmental delay, MIM# 613402
- OMIM
- 605610
- Clinvar variants
- Variants in PNKP
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Chromosome Breakage Disorders
- Prepair 1000+
- Microcephaly
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Fetal anomalies
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Prepair 500+
- Callosome
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pnkp has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pnkp has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PNKP was added gene: PNKP was added to Chromosome Breakage Disorders. Sources: Expert Review Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 20118933; 25728773 Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM# 616267; Microcephaly, seizures, and developmental delay, MIM# 613402 Review for gene: PNKP was set to GREEN